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Furthermore, the top 10 down regulated metabolites were Eicosapentaenoic acid, 1,4-Benzothiazine-O-quinonimine, Irilone de Iris, Hovenidulcioside B1, 2-Methyl-3-hydroxyphenylpropionic acid, Propionylcholine, cis-4- Hydroxycyclohexylacetic acid, N-Phenyl-1-naphthylamine, Coumarin, and 5,7,4-Trihydroxy-3-methoxyflavanone 4-O-isobutyrate metabolites (Figure 3B)

Sigma-Tau Pharmaceuticals, Inc

To directly probe the metabolic impact of GOT1/2 deletion in vivo, we employed MALDI imaging to visualize aspartate levels and the lactate/pyruvate ratio as an inverse proxy for cyto-solic NAD + /NADH

To date, eight different variants, including three frameshift mutations (37.5%), two missense mutations (25.0%), one nonsense mutation (12.5%), one copy number mutation (12.5%), and one six-base in-frame deletion (12.5%), have been reported in China in 10 patients from nine unrelated families (Table 1)